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Fertility and Reproductive Health Implications of Targeted Therapeutics for Cystic Fibrosis

Sigrid Ladores, Dheeraj Raju and Leigh Ann Bray

Aim: To explore knowledge of fertility and knowledge of the impact of cystic fibrosis (CF) on reproduction and fertility among women of childbearing age with homozygous F508del mutation, and explore these women's perceptions on fertility changes secondary to lumacaftor/ivacaftor.

Methods: This pilot had a sample of 20 women. Ten women with CF, ages 19-35 with homozygous F508del mutation, stable lung function, and English proficient were included, as well as a non-CF comparison group. Three questionnaires were administered: demographics form, Knowledge of Fertility (KF), and Knowledge of Impact of CF on Reproduction and Fertility (KICFRF). A semi-structured interview was conducted with the CF group. Interview transcripts were coded and analyzed using thematic analysis.

Results: On the KF scale, participants in both groups reported a lot of knowledge about the effect of age on fertility. Seven participants in the CF group and eight in the non-CF group reported little knowledge about the infertility work up. On the KICFRF, seven reported a lot of knowledge on the role of cervical mucus viscosity on fertility. Only three reported a lot of knowledge on the role of cervical mucus pH. Half of the CF group correctly identified CF's genetic transmission. Three main themes emerged from the qualitative data: (1) "Positive, negative, and unknown effects of lumacaftor/ivacaftor"; (2) "Needing comprehensive reproductive and sexual health education and counseling by the CF care team"; and (3) "Wanting to have a child despite knowing or suspecting impaired fertility".

Discussion: Women with CF are knowledgeable about general fertility concepts. Areas of less knowledge (i.e., infertility work-up, genetic transmission, and role of cervical mucus pH) require future research. They desire comprehensive clinical care that includes discussions about fertility and reproductive health. They want to become mothers and are hopeful that targeted therapeutics will make their dream of motherhood a reality.